Canonical Allele Identifier: CA400556225

Gene: ACE

Linked Data

• dbSNP Id: rs2029962852
• gnomAD v4: 17-63486673-G-T
• MyVariant Identifiers: chr17:g.61564034G>T (hg19) ; chr17:g.63486673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486673G>T , CM000679.2:g.63486673G>T	GRCh38
NC_000017.10:g.61564034G>T , CM000679.1:g.61564034G>T	GRCh37
NC_000017.9:g.58917766G>T	NCBI36
NG_011648.1:g.14601G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2175G>T MANE Select	ENSP00000290866.4:p.Gln725His
ENST00000290863.10:c.453G>T	ENSP00000290863.6:p.Gln151His
ENST00000290866.9:c.2175G>T	ENSP00000290866.4:p.Gln725His
ENST00000413513.7:c.453G>T	ENSP00000392247.3:p.Gln151His
ENST00000428043.5:c.2175G>T	ENSP00000397593.2:p.Gln725His
ENST00000577647.2:c.453G>T	ENSP00000464149.1:p.Gln151His
ENST00000578839.5:c.*245G>T	ENSP00000462110.2:n.*245G>T
ENST00000579204.1:c.356G>T	ENSP00000464629.1:n.356G>T
ENST00000579314.5:c.453G>T	ENSP00000462599.1:p.Gln151His
ENST00000579726.5:c.737G>T
ENST00000582005.5:c.*95G>T	ENSP00000462002.1:n.*95G>T
NM_000789.3:c.2175G>T	NP_000780.1:p.Gln725His
NM_001178057.1:c.453G>T	NP_001171528.1:p.Gln151His
NM_152830.2:c.453G>T	NP_690043.1:p.Gln151His
XM_005257110.1:c.1626G>T	XP_005257167.1:p.Gln542His
XM_006721737.2:c.513G>T	XP_006721800.2:p.Gln171His
XM_006721737.3:c.513G>T	XP_006721800.2:p.Gln171His
NM_000789.4:c.2175G>T MANE Select	NP_000780.1:p.Gln725His
NM_001178057.2:c.453G>T	NP_001171528.1:p.Gln151His
NM_152830.3:c.453G>T	NP_690043.1:p.Gln151His
NM_001382700.1:c.1608G>T	NP_001369629.1:p.Gln536His
NM_001382701.1:c.1323G>T	NP_001369630.1:p.Gln441His
NM_001382702.1:c.105G>T	NP_001369631.1:p.Gln35His
NR_168483.1:n.475G>T